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Variant (rsID / SNP)

rs1057518973

FBN1

rs1057518973 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,888,540. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FBN1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:48888540
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.478T>C (p.Cys160Arg)
Allele change
Missense_C160R

Associated conditions / phenotypes

Ectopia lentis|Aortic dissection|Mitral regurgitation|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Marfan syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.